Radiogenomics of C9orf72 Expansion Carriers Reveals Global Transposable Element Derepression and Enables Prediction of Thalamic Atrophy and Clinical Impairment

Hexanucleotide repeat expansion (HRE) within C9orf72 is the most common genetic cause of frontotemporal dementia (FTD). Thalamic atrophy occurs in both sporadic and familial FTD but is thought to distinctly affect HRE carriers. Separately, emerging evidence suggests widespread derepression of transp...

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Detalles Bibliográficos
Autores principales: Bonham, Luke W., Geier, Ethan G., Sirkis, Daniel W., Leong, Josiah K., Ramos, Eliana Marisa, Wang, Qing, Karydas, Anna, Lee, Suzee E., Sturm, Virginia E., Sawyer, Russell P., Friedberg, Adit, Ichida, Justin K., Gitler, Aaron D., Sugrue, Leo, Cordingley, Michael, Bee, Walter, Weber, Eckard, Kramer, Joel H., Rankin, Katherine P., Rosen, Howard J., Boxer, Adam L., Seeley, William W., Ravits, John, Miller, Bruce L., Yokoyama, Jennifer S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Society for Neuroscience 2023
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9838702/
https://www.ncbi.nlm.nih.gov/pubmed/36446586
http://dx.doi.org/10.1523/JNEUROSCI.1448-22.2022

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